JSON

mucopolysaccharidosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0019249

A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. [ NCIT:C61259 ]

Synonyms: mucopolysaccharidoses Mucopolysaccharidoses mucopolysaccharidosis

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:12798 (MONDO:equivalentTo)
  • ICD9:277.5 (MONDO:i2s)
  • Orphanet:79213 (MONDO:equivalentTo)
  • UMLS:C0026703 (MONDO:equivalentTo)
  • MEDGEN:7733 (MONDO:equivalentTo)
  • NORD:1461 (MONDO:NORD)
  • MESH:D009083 (Orphanet:79213/e)
  • OMIMPS:607014 (MONDO:equivalentTo)
  • SCTID:11380006 (MONDO:equivalentTo)
  • GARD:7065 (MONDO:GARD)
  • icd11.foundation:1596128696 (Orphanet:79213)
  • MedDRA:10028093 (Orphanet:79213/e)
  • NCIT:C61259 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

abbreviation
MPS [ GARD:0007065 ]

closeMatch

http://identifiers.org/meddra/10028093

exactMatch

http://www.orpha.net/ORDO/Orphanet_79213

https://omim.org/phenotypicSeries/PS607014

http://linkedlifedata.com/resource/umls/id/C0026703

http://purl.obolibrary.org/obo/DOID_12798

http://identifiers.org/snomedct/11380006

http://identifiers.org/medgen/7733

http://purl.obolibrary.org/obo/NCIT_C61259

http://identifiers.org/mesh/D009083

id

MONDO:0019249

seeAlso

https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml